COL11A1 - dismech genes

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
Fibrochondrogenesis	causative germline	mechanism: COL11A1/COL11A2 Loss-of-Function subtype: Type 1 scoped to subtype: Type 1
Stickler Syndrome Type 2	causative germline dominant negative	mechanism: COL11A1 Triple-Helical Domain Variant
Autosomal Dominant Nonsyndromic Hearing Loss 37	untyped Causal germline	mechanism: COL11A1 Canonical Splice-Site Disruption
Marshall Syndrome	untyped Causal heterozygous variant germline dominant negative	mechanism: Heterozygous COL11A1 54-bp Exon Splice-Site Variant

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
autosomal dominant nonsyndromic hearing loss MONDO:0019587	AD	Moderate 2025-06-18	no dismech entry

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.